SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1555023232 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS1555025770 CTSC Health Risk Likely pathogenic —
RS1555025823 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1555027828 KMT5B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555028154 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS1555028206 KMT5B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555031372 DPF2 Health Risk Pathogenic Coffin-Siris syndrome 7, Coffin-Siris syndrome 1
RS1555031500 DPF2 Health Risk Pathogenic Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS1555032044 DPF2 Health Risk Pathogenic Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS1555032051 DPF2 Health Risk Likely pathogenic Coffin-Siris syndrome 7, Inborn genetic diseases
RS1555032074 DPF2 Health Risk Pathogenic Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS1555032952 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1555034768 KMT5B Health Risk Pathogenic Intellectual disability, autosomal dominant 51
RS1555034779 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555035511 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555035550 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555035779 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555036085 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1555036138 C1QTNF5 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1555036328 KMT2A Health Risk Pathogenic —
RS1555036394 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555036397 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555036436 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555036475 KMT2A Health Risk Pathogenic —
RS1555036478 KMT2A Health Risk Likely pathogenic —
RS1555036599 KMT2A Health Risk Pathogenic —
RS1555036663 KMT2A Health Risk Pathogenic —
RS1555036801 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555037395 MFRP Health Risk Pathogenic Retinal dystrophy, Isolated microphthalmia 5
RS1555037629 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555038029 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555038083 KMT2A Health Risk Likely pathogenic —
RS1555038090 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555038111 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555038115 KMT2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555038122 KMT2A Health Risk Pathogenic —
RS1555038125 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555038664 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1555038844 KMT2A Health Risk Pathogenic —
RS1555039090 SLC6A5 Health Risk Likely pathogenic —
RS1555039242 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555039343 KMT2A Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1555039476 KMT2A Health Risk Pathogenic —
RS1555039606 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555040446 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555040480 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555041617 KMT2A Health Risk Likely pathogenic —
RS1555042727 EFEMP2 Health Risk Likely pathogenic Cutis laxa, autosomal recessive
RS1555042801 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1555042987 KMT2A Health Risk Likely pathogenic —
RS1555043520 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1555043796 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555043939 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555044700 KMT2A Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1555044758 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555045177 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555045506 KMT2A Health Risk Pathogenic —
RS1555045816 KMT2A Health Risk Pathogenic Inborn genetic diseases, Wiedemann-Steiner syndrome
RS1555045834 KMT2A Health Risk Likely pathogenic —
RS1555046094 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1555046152 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Inborn genetic diseases
RS1555046404 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555046428 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555046568 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Inborn genetic diseases
RS1555046611 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1555046615 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555046748 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1555046764 KMT2A Health Risk Pathogenic —
RS1555046870 KMT2A Health Risk Likely pathogenic —
RS1555047011 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1555047266 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555047409 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1555047466 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555047506 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555047532 KMT2A Health Risk Pathogenic —
RS1555047647 KMT2A Health Risk Pathogenic —
RS1555047651 NARS2 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1555047786 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1555048203 KMT2A Health Risk Pathogenic —
RS1555048487 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Retinitis pigmentosa
RS1555049194 BBS1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Bardet-Biedl syndrome
RS1555049536 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1555049702 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555049893 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1555049933 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1555050158 GRIA4 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without seizures and gait abnormalities, Intellectual disability
RS1555050165 GRIA4 Health Risk Likely pathogenic Neurodevelopmental disorder with or without seizures and gait abnormalities, Inborn genetic diseases
RS1555050171 GRIA4 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Neurodevelopmental disorder with or without seizures and gait abnormalities
RS1555050174 GRIA4 Health Risk Likely pathogenic Neurodevelopmental disorder with or without seizures and gait abnormalities, Intellectual disability
RS1555050211 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1555050268 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1555050394 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1555050404 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1555050427 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1555050487 BBS1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555051384 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555051390 MYO7A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS1555051419 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1555051455 MYO7A Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2
RS1555051567 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
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